Wilson disease – constelation of phenotypes
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2023-11-09 21:26
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, , CUMPĂTĂ, Veronica. Wilson disease – constelation of phenotypes. In: Congres de Boală Parkinson și tulburări de mișcare , 8-9 octombrie 2021, Brașov. Brașov, România: Universitatea Transilvania Brașov, 2021, Ediția a 2-a, p. 15.
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Congres de Boală Parkinson și tulburări de mișcare
Ediția a 2-a, 2021
Congresul "Congres de Boală Parkinson și tulburări de mișcare "
Brașov, Romania, 8-9 octombrie 2021

Wilson disease – constelation of phenotypes


Pag. 15-15

, Cumpătă Veronica,
 
”Nicolae Testemițanu” State University of Medicine and Pharmacy
 
 
Disponibil în IBN: 29 noiembrie 2021


Rezumat

Introduction: The phenotypic variability in WD is considerable and its onset can be heterogeneous. Clinical manifestations of WD are extraordinarily diverse, with wide variation in hepatic abnormalities and an inconsistent relationship between severity of liver disease and the classical neurological disturbances. In the current study, we analyzed a cohort of patients with Wilson diseases who were consecutively consulted in our center. The aim was to characterize the neurological manifestations in terms of symptom type and degree of neurological impairment and correlate these features with degree of disability, abnormalities in copper metabolism, and hepatic status. Methods: 15 patients diagnosed with Wilson disease were included. Neurological manifestations were characterized by examination in terms of symptom including consciousness, activities of daily living (based on the Barthel Scale) as reported by the patient or their proxy. The neurological abnormalities correlated with abnormalities in copper parameters and hepatic status. Results: Most patients (52.9%) exhibited tremor and ataxia, whereas 9.3% were dystonic, and 7.3% had parkinsonism. Discrete signs were observed in 19.6% of patients. A positive correlation between neurological impairment and higher level of free cooper was observed (Pearson r = 0.71). Poor correlation was identified between neurological impairment and hepatic disturbances. Conclusions: The hepatic manifestations of Wilson disease did not appear to be correlated with neurological status. These challenges at recognizing the signs of WD may hamper clinicians’ ability to make an accurate diagnosis, impacting the delivery of personalized treatments that may minimize the progression of the disease.

Cuvinte-cheie
WD, Wilson disease, hepatic cooper, neurological status